A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4976



Internal ID15544061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:42481816..42495135hg38UCSC Ensembl
Outerchr7:42521415..42534734hg19UCSC Ensembl
Outerchr7:42487940..42501259hg18UCSC Ensembl
Outerchr7:42294655..42307974hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386652
hg196652
hg186652
hg176652
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5718
Supporting Variants
SamplesNA19129
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv4976
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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